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Items where Author is "Charlesworth, JC"

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Blackburn, NB, Marthick, JR, Banks, A, Charlesworth, JC ORCID: 0000-0001-6201-3518, Marsden, KA, Lowenthal, RM, Blangero, J and Dickinson, JL ORCID: 0000-0003-4621-1703 2017 , 'Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies' , Blood, vol. 130, no. 1 , pp. 86-88 , doi: 10.1182/blood-2017-03-774232.

Charlesworth, JC, Stankovich, J, Mackey, DA, Craig, JE, Haybittel, M, Westmore, RN and Sale, MM 2006 , 'Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian family' , Ophthalmologica, vol. 220, no. 1 , pp. 23-30 , doi: 10.1159/000089271.

FitzGerald, LM ORCID: 0000-0002-6882-2698, Raspin, K ORCID: 0000-0001-8463-6820, Marthick, JR, Field, MA, Malley, RC ORCID: 0000-0002-3289-5270, Thomson, RJ, Blackburn, NB, Banks, A, Charlesworth, JC ORCID: 0000-0001-6201-3518, Donovan, S and Dickinson, JL ORCID: 0000-0003-4621-1703 2017 , 'Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours' , Scientific Reports, vol. 7, no. 1 , pp. 1-9 , doi: 10.1038/s41598-017-18217-w.

Glahn, DC, Nimgaonkar, VL, Raventos, H, Contreras, J, McIntosh, AM, Thomson, PA, Jablensky, A, McCarthy, NS, Charlesworth, JC ORCID: 0000-0001-6201-3518, Blackburn, NB, Peralta, JM, Knowles, EEM, Mathias, SR, Ament, SA, McMahon, FJ, Gur, RC, Bucan, M, Curran, JE, Almasy, L, Gur, RE and Blangero, J 2018 , 'Rediscovering the value of families for psychiatric genetics research' , Molecular Psychiatry , pp. 1-13 , doi: 10.1038/s41380-018-0073-x.

Hardcastle, AJ, Liskova, P, Bykhovskaya, Y, McComish, BJ ORCID: 0000-0003-1940-0007, Davidson, AE, Inglehearn, CF, Li, X, Choquet, H, Habeeb, M, Lucas, SEM ORCID: 0000-0003-0104-5406, Sahebjada, S, Pontikos, N, Lopez, KER, Khawaja, AP, Ali, M, Dudakova, L, Skalicka, P, Van Dooren, BTH, Geerards, AJM, Haudum, CW, Faro, VL, Tenen, A, Simcoe, MJ, Patasova, K, Yarrand, D, Yin, J, Siddiqui, S, Rice, A, Farraj, LA, Chen, YDI, Rahi, JS, Krauss, RM, Theusch, E, Charlesworth, JC ORCID: 0000-0001-6201-3518, Szczotka-Flynn, L, Toomes, C, Meester-Smoor, MA, Richardson, AJ, Mitchell, PA, Taylor, KD, Melles, RB, Aldave, AJ, Mills, RA, Cao, K, Chan, E, Daniell, MD, Wang, JJ, Rotter, JI, Hewitt, AW ORCID: 0000-0002-5123-5999, MacGregor, S, Klaver, CCW, Ramdas, WD, Craig, JE, Iyengar, SK, O'Brart, D, Jorgenson, E, Baird, PN, Rabinowitz, YS, Burdon, KP ORCID: 0000-0001-8217-1249, Hammond, CJ, Tuft, SJ and Hysi, PG 2021 , 'A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus' , Communications Biology, vol. 4, no. 1 , pp. 1-13 , doi: 10.1038/s42003-021-01784-0.

Jones, JL ORCID: 0000-0002-6475-9134, Corbett, MA, Yeaman, E, Zhao, D, Gecz, J, Gasperini, RJ ORCID: 0000-0001-6859-1247, Charlesworth, JC ORCID: 0000-0001-6201-3518, Mackey, DA, Elder, JE, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2021 , 'A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract' , European Journal of Human Genetics , doi: 10.1038/s41431-021-00889-8.

Lucas, SEM ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Brown, MA, Lindsay, RC, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent' , Investigative Ophthalmology and Visual Science (Iovs), vol. 58, no. 14 , pp. 6248-6256 , doi: 10.1167/iovs.17-22417.

Lucas, SEM ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Lindsay, R, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent' , PLoS One, vol. 13, no. 6 , pp. 1-15 , doi: 10.1371/journal.pone.0199178.

McComish, BJ ORCID: 0000-0003-1940-0007, Sahebjada, S, Bykhovskaya, Y, Willoughby, CE, Richardson, AJ, Tenen, A, Charlesworth, JC ORCID: 0000-0001-6201-3518, MacGregor, S, Mitchell, P, Lucas, SEM ORCID: 0000-0003-0104-5406, Mills, RA, Mackey, DA, Li, X, Wang, JJ, Jensen, RA, Rotter, JI, Taylor, KD, Hewitt, AW ORCID: 0000-0002-5123-5999, Rabinowitz, YS, Baird, PN, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2019 , 'Association of genetic variation with keratoconus' , JAMA Ophthalmology , pp. 1-8 , doi: 10.1001/jamaophthalmol.2019.5293.

Zhou, Y ORCID: 0000-0003-1962-2574, Chen, M, Simpson Jr, S ORCID: 0000-0001-6521-3056, Lucas, RM, Charlesworth, JC ORCID: 0000-0001-6201-3518, Blackburn, N, van der Mei, I ORCID: 0000-0001-9009-7472, Ponsonby, AL and Taylor, BV 2017 , 'Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis' , Neurological Sciences , pp. 1-8 , doi: 10.1007/s10072-017-3177-1.

Zhou, Y ORCID: 0000-0003-1962-2574, Graves, JS, Simpson Jr, S ORCID: 0000-0001-6521-3056, Charlesworth, JC ORCID: 0000-0001-6201-3518, van der Mei, I ORCID: 0000-0001-9009-7472, Waubant, E, Barcellos, LF, Belman, A, Krupp, L, Lucas, R, Ponsonby, AL and Taylor, BV 2017 , 'Genetic variation in the gene LRP2 increases relapse risk in multiple sclerosis' , Journal of Neurology, Neurosurgery and Psychiatry, vol. 88, no. 10 , pp. 864-868 , doi: 10.1136/jnnp-2017-315971.

Zhou, Y ORCID: 0000-0003-1962-2574, Simpson Jr, S ORCID: 0000-0001-6521-3056, Charlesworth, JC ORCID: 0000-0001-6201-3518, van der Mei, I ORCID: 0000-0001-9009-7472, Lucas, RM, Ponsonby, AL and Taylor, BV 2017 , 'Variation within MBP gene predicts disease course in multiple sclerosis' , Brain and Behavior, vol. 7, no. 4 , pp. 1-6 , doi: 10.1002/brb3.670.

This list was generated on Sat Dec 4 02:05:25 2021 AEDT.
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